Sickle cell disease: A distinction of two most frequent genotypes (HbSS and HbSC)
Sickle cell disease: A distinction of two most frequent genotypes (HbSS and HbSC)
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DOI：
10.1371/journal.pone.0228399
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发表时间：
2020-01-29
期刊：
影响因子：
3.7
通讯作者：
Goncalves, Marilda Souza
中科院分区：
文献类型：
--
作者：
da Guarda, Caroline Conceicao;Modeste Alexandre Yahouedehou, Setondji Cocou;Goncalves, Marilda Souza
镰状细胞病（SCD）由一组血红蛋白病组成，其中个体表现出高度变化的临床表现。镰状细胞性贫血（SCA）是最严重的形式，而SC血红蛋白病（HbSC）被认为是较轻的。因此，我们通过比较各种SCD基因型来研究临床表现和实验室参数。我们设计了一项横断面研究，包括126名SCA个体和55名稳态HbSC个体。进行血液学、生化和炎症特征以及既往临床事件的调查。SCA患者表现出最突出的贫血、溶血、白细胞增多和炎症，而HbSC患者的脂质检测增加。住院治疗的主要原因是两种基因型的疼痛危机。两组的血管闭塞事件和疼痛危象与血液学、炎症和贫血生物标志物相关。聚类分析揭示血液学、炎症、溶血、内皮功能障碍和贫血在HbSC疾病和SCA中的生物标志物。本研究结果与以往的研究结果一致，表明SCA和HbSC虽然从遗传学角度来看可能相似，但表现出不同的临床表现和实验室改变，这有助于监测每种基因型的临床病程。
Sickle cell disease (SCD) consists of a group of hemoglobinopathies in which individuals present highly variable clinical manifestations. Sickle cell anemia (SCA) is the most severe form, while SC hemoglobinopathy (HbSC) is thought to be milder. Thus, we investigated the clinical manifestations and laboratory parameters by comparing each SCD genotype. We designed a cross-sectional study including 126 SCA individuals and 55 HbSC individuals in steady-state. Hematological, biochemical and inflammatory characterization was performed as well as investigation of previous history of clinical events. SCA patients exhibited most prominent anemia, hemolysis, leukocytosis and inflammation, whereas HbSC patients had increased lipid determinations. The main cause of hospitalization was pain crises on both genotypes. Vaso-occlusive events and pain crises were associated with hematological, inflammatory and anemia biomarkers on both groups. Cluster analysis reveals hematological, inflammatory, hemolytic, endothelial dysfunction and anemia biomarkers in HbSC disease as well as SCA. The results found herein corroborate with previous studies suggesting that SCA and HbSC, although may be similar from the genetic point of view, exhibit different clinical manifestations and laboratory alterations which are useful to monitor the clinical course of each genotype.